I8I (p.Ile8Ile) variant of MLH1 (DNA mismatch repair protein Mlh1)
I8I (p.Ile8Ile) in MLH1 (DNA mismatch repair protein Mlh1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I8I (p.Ile8Ile) variant details
- p.Ile8Ile
- rs748406142
- gnomAD 3-36993571-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 13.20
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available